Unexpected retention and concomitant loss of subtelomeric regions in balanced chromosome anomalies by FISH

American Journal of Medical Genetics

Volumn 111, Issue 1, 2002, Pages 48-53

  Pettenati, Mark J ^a   Jackle, Bethy ^a   Bobby, Peggy ^a   Stewart, William ^a   Von Kap Herr, Chris ^a   Mowrey, Philip ^b   Nagesh Rao, P ^c   May, Kristin M ^d  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

FISH; Paracentric inversion; Reciprocal translocations; Subtelomere; Telomere

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME PAIRING; CHROMOSOME REARRANGEMENT; CYTOGENETICS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GAMETE; HUMAN; MEIOSIS; PARACENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD; TELOMERE; AMNIOCENTESIS; CHILD; CHROMOSOME DISORDER; CHROMOSOME INVERSION; CONGENITAL MALFORMATION; GENE TRANSLOCATION; GENETICS; HUMAN CHROMOSOME; MENTAL DEFICIENCY; PATHOLOGY; PREGNANCY; RECURRENT ABORTION; ULTRASTRUCTURE;

ABORTION, HABITUAL; ADULT; AMNIOCENTESIS; CASE REPORT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN; FEMALE; FETUS; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION (GENETICS); MEIOSIS; MENTAL RETARDATION; PREGNANCY; TELOMERE; TRANSLOCATION (GENETICS); HUMANS; INVERSION, CHROMOSOME; TRANSLOCATION, GENETIC;

EID: 4243321486     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10535     Document Type: Article

References (20)

1. Reproductive outcome in 3 families with a satellited chromosome-4 with review of the literature
2. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
3. An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: Uses and limitations of fluorescence in situ hybridization
4. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
5. A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
6. Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23; p13)
7. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
8. Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27; p15.3) in a family with three mentally retarded individuals
9. Types of imbalances in human reciprocal translocations: Risks at birth
10. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
11. Subtle chromosomal rearrangements in children with unexplained mental retardation
12. An optimized set of human telomere clones for studying telomere integrity and architecture
13. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child
14. A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: Clinical findings and review of subtelomeric rearrangements
15. Integration of telomere sequences with the draft human genome sequence
16. Molecular mechanisms for constitutional chromosomal rearrangements in humans
17. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
18. Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 → qter: Molecular cytogenetic analysis and clinical phenotype in two generations
19. Somatic pairing between subtelomeric chromosome regions: Implications for human genetic disease?
20. Detection of submicroscopic subtelomeric chromosome translocations: A new case study